Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia

Solaki, Maria; Wissinger, Bernd; Kohl, Susanne; Reuter, Peggy

dc.contributor.author	Solaki, Maria
dc.contributor.author	Wissinger, Bernd
dc.contributor.author	Kohl, Susanne
dc.contributor.author	Reuter, Peggy
dc.date.accessioned	2024-03-04T08:26:12Z
dc.date.available	2024-03-04T08:26:12Z
dc.date.issued	2023
dc.identifier.issn	1098-3600
dc.identifier.uri	http://hdl.handle.net/10900/151439
dc.language.iso	en	de_DE
dc.publisher	New York : Elsevier Science Inc	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.gim.2023.100979	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia	de_DE
dc.type	Article	de_DE
utue.quellen.id	20240124000000_00287
utue.personen.roh	Solaki, Maria
utue.personen.roh	Wissinger, Bernd
utue.personen.roh	Kohl, Susanne
utue.personen.roh	Reuter, Peggy
dcterms.isPartOf.ZSTitelID	Genetics in Medicine	de_DE
dcterms.isPartOf.ZS-Issue	Article 100979	de_DE
dcterms.isPartOf.ZS-Volume	25 (12)	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE